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[SMC] A novel case of compound heterozygous GFPT1 congenital myasthenic syndrome with a coexisting heterozygous DYSF mut

Posté : 17 janv. 2026 12:00
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Neurol Sci. 2026 Jan 17;47(1):170. doi: 10.1007/s10072-025-08642-5.

NO ABSTRACT

PMID:41546777 | DOI:10.1007/s10072-025-08642-5


Source: https://pubmed.ncbi.nlm.nih.gov/4154677 ... 22+67771e2